Polyneuropathie 1 (LPN1) - Leonberger Searchterm It is characterized by abnormal

It is characterized by abnormal hematologic findings

Due to severe clinical phenotype and symptoms

First clinical signs can be detected already at the age of 5 weeks (reduced cone ERG response)

Schwierigkeiten beim Stehen und Gehen in einer geraden Linie

The symptoms become evident at 2 months of age

Polyneuropathie 1 (LPN1) - Leonberger Searchterm It is characterized by abnormalLeonberger Polyneuropathy 1 (LPN1) is a polyneuropathy condition (PN) that is associated with a mutation in ARHGEF10 gene. A loss of function of the gene may lead to the loss of proper nerve signalling. Polyneuropathy can display a wide range of age of onset and may appear due to the mutations in other genes (GJA9, NDRG1) with a different mode of inheritance. Clinical signs include generalized weakness, hypotonia, muscle atrophy secondary to